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1.
Artigo em Inglês | MEDLINE | ID: mdl-38476584

RESUMO

Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations. The aim of our study is to describe the clinical, radiological and genetic profile of patients with CTX. Methods: This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and radiological findings. The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were documented. Results: Five patients (4 males) were recruited in the study. The median age at presentation was 32 years (range: 21-66 years). Walking difficulty was the most common symptom at presentation. All patients had cataracts, tendon xanthomas, eye movement abnormalities, dysarthria, pyramidal signs, ataxia and gait abnormality. Dystonia was noted in three patients. Palatal tremor and parkinsonism were noted in one patient each. In MRI brain, dentate, and corticospinal tract involvement were the most frequent imaging findings. Bilateral hypertrophic olivary degeneration was noted in one patient and hot cross bun sign in two. Three patients underwent genetic testing and all had pathogenic variants confirming the diagnosis. Discussion: CTX is a rare treatable disorder. Apart from the usual neurological presentation with spastic-ataxia, it can present at a later age with parkinsonism. Typical patterns of imaging findings are helpful in early diagnosis which aids in the treatment to prevent the neurological sequelae of the disease.


Assuntos
Catarata , Ataxia Cerebelar , Transtornos Parkinsonianos , Xantomatose Cerebrotendinosa , Xantomatose , Masculino , Humanos , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Xantomatose Cerebrotendinosa/diagnóstico , Colestanotriol 26-Mono-Oxigenase/genética , Colestanotriol 26-Mono-Oxigenase/uso terapêutico , Estudos Retrospectivos , Doenças Raras
2.
Neurol India ; 72(1): 138-141, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38443015

RESUMO

ABSTRACT: Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive disorder with varied clinical manifestations and age of onset and is often diagnosed late. We report three cases of CTX who presented at our center with clinical features of frequent diarrhea, early cataracts, xanthomas, cognitive decline, ataxia, neuropathy, and other manifestations of CTX. Magnetic resonance imaging (MRI) brain in all three patients revealed abnormalities consistent with CTX. Diagnosis was confirmed by next-generation sequencing. Chenodeoxycholic acid (CDCA) is recommended as the drug of choice, as it can halt the disease progression and reverse some of the symptoms. In addition to late diagnosis, nonavailability of CDCA in our part of world adds to the problem of management of such patients; therefore, they are often started on alternative therapies, which are less effective.


Assuntos
Xantomatose Cerebrotendinosa , Xantomatose , Humanos , Ataxia , Testes Genéticos , Pesquisa , Xantomatose Cerebrotendinosa/diagnóstico , Xantomatose Cerebrotendinosa/tratamento farmacológico , Xantomatose Cerebrotendinosa/genética
3.
Lipids Health Dis ; 23(1): 83, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38509578

RESUMO

OBJECTIVE: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients. METHODS: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phytosterol levels, cardiac/carotid artery ultrasounds, fundus examinations, and treatment were collected. RESULTS: The majority (19, 73.1%) of the 26 patients exhibited xanthomas as the most prevalent manifestation. The second most common symptoms were joint pain (7, 26.9%) and stunted growth (4, 15.4%). Among the 24 (92.3%) patients whose genetics were analyzed, 16 (66.7%) harbored ABCG5 variants (type 2 sitosterolemia), and nearly one-third (8, 33.3%) harbored ABCG8 variants (type 1 sitosterolemia). Additionally, the most common pathogenic ABCG5 variant was c.1166G > A (p.Arg389His), which was found in 10 patients (66.7%). Further analysis did not indicate any significant differences in pathological traits among those carrying ABCG5 and ABCG8 variations (P > 0.05). Interestingly, there was a greater abundance of nonsense variations in ABCG5 than in ABCG8 (P = 0.09), and a greater frequency of splicing variations in ABCG8 than ABCG5 (P = 0.01). Following a change in diet or a combination of ezetimibe, the levels of cholesterol and low-density lipoprotein were markedly decreased compared to the levels reported before treatment. CONCLUSION: Sitosterolemia should be considered for individuals presenting with xanthomas and increased cholesterol levels. Phytosterol testing and genetic analysis are important for early detection. Managing one's diet and taking ezetimibe can well control blood lipids.


Assuntos
Hipercolesterolemia , Enteropatias , Erros Inatos do Metabolismo Lipídico , Fitosteróis , Fitosteróis/efeitos adversos , Xantomatose , Humanos , Criança , Lipoproteínas/genética , Membro 5 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Fitosteróis/genética , Colesterol , Ezetimiba/uso terapêutico
4.
Head Neck Pathol ; 18(1): 19, 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38502367

RESUMO

BACKGROUND: Intraosseous xanthomas are rare benign lesions sometimes associated with excess lipid production. Xanthoma of the jaw bones (XJB) was first reported in 1964, and fewer than 50 cases have been reported in the English literature to date. The etiopathogenesis of XJB is highly suggestive of a reactive process or a metabolic condition. METHOD: Seven cases of XJBs were retrieved from the archives of 4 oral and maxillofacial pathology services. Clinical, radiographic and histopathologic features of all these cases were retrospectively analyzed. Immunohistochemical (IHC) stains for S100 and CD68 were performed. RESULTS: All seven cases involved the mandible. Patients' age ranged between 13 and 69 years with an evenly distributed female to male ratio. One patient had a medical history of hyperlipidemia, but the medical and dental histories of the others were unremarkable. For most cases, XJB was an incidental finding discovered during routine radiographic examination. Swelling and cortical expansion were noted in a few cases. Radiographically, cases typically presented as either well-defined multilocular or unilocular lesions, which were either radiolucent or mixed radiolucent/radiopaque. All the lesions were treated with surgical curettage and no recurrence was observed during subsequent follow-ups. Each of the seven cases exhibited sheets of foamy macrophages. The diagnosis is established by exclusion of entities with overlapping microscopic features and involved correlation with the clinical, histological, radiographic and IHC profiles. Immunohistochemically, all the cases expressed diffuse positivity for CD68 and were negative for S100. CONCLUSION: XJB is a rare lesion of unknown etiology, which may mimic other benign or reactive jaw lesions. Due to its rarity and the potential diagnostic challenges it presents, clinicians must remain vigilant and consider CXJ in their differential when assessing radiolucent jaw anomalies.


Assuntos
Doenças Ósseas , Xantomatose , Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Mandíbula/patologia , Xantomatose/patologia , Doenças Ósseas/patologia , Diagnóstico Diferencial
5.
Indian J Pathol Microbiol ; 67(1): 185-188, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38358218

RESUMO

Juvenile xanthogranuloma is a benign self-limiting lesion commonly described in infants and young children. It most commonly involves the skin presenting as single or multiple yellowish-brown papules. Clinical scenario with the classic histomorphology showing histiocytic aggregates in the dermis with xanthomatous cytoplasm, toutan type giant cells, immunohistochemistry with positive CD68, CD163, factor XIIIa and negative CD1a and S-100 help in diagnosis. However, diagnosis becomes challenging with predominant systemic bone marrow involvement in post-B-lymphoblastic leukemia settings.


Assuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras B , Leucemia-Linfoma Linfoblástico de Células Precursoras , Xantogranuloma Juvenil , Xantomatose , Lactente , Criança , Humanos , Pré-Escolar , Medula Óssea/patologia , Pele/patologia , Xantogranuloma Juvenil/diagnóstico , Xantogranuloma Juvenil/patologia , Histiócitos/patologia , Xantomatose/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia
6.
Orphanet J Rare Dis ; 19(1): 53, 2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38336741

RESUMO

BACKGROUND: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. The aim of this study is to review the orthopedic findings of the disease by providing an overview of the clinical features of the disease. It is to raise awareness of this condition for which early diagnosis and treatment are important. METHODS: We retrospectively evaluated the clinical, laboratory, radiological, and genetic findings of eight patients from four families who were admitted to our Orthopedics and Traumatology Department between 2017 and 2022 due to bilateral Achilles tendon xanthomas, were found to have high cholestanol and CYP27A1 gene mutations. RESULTS: The mean age of patients was 37, and five of them were male. The mean age at the onset of symptoms was 9.25 years. The mean age of initial diagnosis was 33.75 years. Between symptom onset and clinical diagnosis, an average delay of 24.5 years was observed. All patients had bilateral Achilles tendon xanthoma. Notably, a novel variant (c.670_671delAA) in CYP27A1 gene was identified in three patients who also presented with peripheral neuropathy and bilateral pes cavus. One patient had osteoporosis and four patients had osteopenia. Five patients had a history of bilateral cataracts. Furthermore, three of the patients had early-onset chronic diarrhea and three of the patients had ataxia. Two of the patients had epilepsy and seven of the patients had behavior-personality disorder. All patients had low intelligence, but none of them had cardiac disease. CONCLUSION: We present the diagnostic process and clinical features which the largest CTX case series ever reported from single orthopedic clinic. We suggest that patients with normal cholesterol levels presenting with xanthoma being genetically analyzed by testing at their serum cholestanol level, and that all siblings of patients diagnosed with CTX be examined.


Assuntos
Colestanotriol 26-Mono-Oxigenase , Xantomatose Cerebrotendinosa , Adulto , Criança , Feminino , Humanos , Masculino , Colestanotriol 26-Mono-Oxigenase/genética , Colestanol/uso terapêutico , Estudos Retrospectivos , Xantomatose/genética , Xantomatose Cerebrotendinosa/diagnóstico , Xantomatose Cerebrotendinosa/genética
7.
J Avian Med Surg ; 37(4): 330-338, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38363165

RESUMO

A 12-year-old male eclectus parrot (Eclectus roratus) was referred for evaluation of coelomic distention. Computed tomography and blood work revealed coelomic effusion with free coelomic mineral-attenuating material and elevations in the bile acids and aspartate aminotransferase activity, respectively. Coelomic effusion was consistent with macrophagic inflammation with abundant intracellular lipids. Initial treatment with meloxicam resulted in minimal patient improvement. Disseminated xanthogranulomatous inflammation was suspected based on imaging and diagnostic laboratory results, which were consistent with those previously reported. Biopsy samples of liver tissue and intracoelomic masses confirmed this diagnosis. Treatment was initiated with prednisolone 1 mg/kg/d for 6 months, followed by 0.5 mg/kg/d for 3 months. Clinical improvement was assessed based on owner evaluation, plasma bile acid concentrations, and repeated computed tomographic scans. After 2 months of treatment, the owner reported improved behavior and appetite; this persisted throughout treatment and when the bird was reexamined 17 months following the cessation of steroid therapy. Bile acid concentrations were normal 10 months after the prednisolone therapy was discontinued. Diagnostic imaging showed minimal coelomic effusion 10 months after the last prednisolone dose was administered, with improved ventilation of the air sacs and static to improved dystrophic mineral foci. This report describes the antemortem diagnosis and treatment of disseminated coelomic xanthogranulomatous disease in a psittacine species, with an observed measurable therapeutic response.


Assuntos
Doenças das Aves , Papagaios , Xantomatose , Masculino , Animais , Doenças das Aves/diagnóstico , Doenças das Aves/tratamento farmacológico , Doenças das Aves/patologia , Inflamação/veterinária , Granuloma/diagnóstico , Granuloma/tratamento farmacológico , Granuloma/veterinária , Xantomatose/veterinária , Prednisolona/uso terapêutico , Ácidos e Sais Biliares , Minerais
8.
Int J Mol Sci ; 25(3)2024 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-38338916

RESUMO

Familial hypercholesterolemia (FH) is a genetic disorder primarily transmitted in an autosomal-dominant manner. We distinguish two main forms of FH, which differ in the severity of the disease, namely homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH). The characteristic feature of this disease is a high concentration of low-density lipoprotein cholesterol (LDL-C) in the blood. However, the level may significantly vary between the two mentioned types of FH, and it is decidedly higher in HoFH. A chronically elevated concentration of LDL-C in the plasma leads to the occurrence of certain abnormalities, such as xanthomas in the tendons and skin, as well as corneal arcus. Nevertheless, a significantly more severe phenomenon is leading to the premature onset of cardiovascular disease (CVD) and its clinical implications, such as cardiac events, stroke or vascular dementia, even at a relatively young age. Due to the danger posed by this medical condition, we have investigated how both non-pharmacological and selected pharmacological treatment impact the course of FH, thereby reducing or postponing the risk of clinical manifestations of CVD. The primary objective of this review is to provide a comprehensive summary of the current understanding of FH, the effectiveness of lipid-lowering therapy in FH and to explain the anatomopathological correlation between FH and premature CVD development, with its complications.


Assuntos
Doenças Cardiovasculares , Hipercolesterolemia Familiar Homozigota , Hiperlipoproteinemia Tipo II , Xantomatose , Humanos , LDL-Colesterol , Hiperlipoproteinemia Tipo II/complicações , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Hiperlipoproteinemia Tipo II/genética , Doenças Cardiovasculares/complicações , Xantomatose/tratamento farmacológico , Xantomatose/etiologia
10.
Neuroradiol J ; 37(1): 123-125, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36951613

RESUMO

Intracranial xanthogranulomas (XGs) have been found at various sites, but xanthogranuloma of the sellar region is extremely rare. We report about a case of sellar XG in a 34-year-old female. Magnetic resonance imaging showed a solid-cystic mass located at the sella turcica. The cystic component was hyperintense on the T1-weighted image (WI) and T2WI. The solid component was hyperintense on T1WI and hypointense on T2WI. There was peripheral enhancement after gadolinium administration. The diagnosis of cystic macroadenoma was considered before surgery. Final diagnosis of XG was confirmed by histopathological examination after surgical resection. Gross total resection of the lesion was achieved using the microscope through endoscopic endonasal transsphenoidal approach. The patient had a good outcome and no symptom of diabetes insipidus, hormonal evaluation did not show any alterations compatible with hypopituitarism and prolactin levels were normal XG should receive diagnostic consideration for the sellar mass lesions with cystic components hyperintense on T1WI and T2WI, solid components hyperintense on T1WI and hypointense on T2WI, and CT without evidence of calcifications. It is important to consider the possibility of XG when pertinent, as it facilitates a proper surgical approach strategy.


Assuntos
Neoplasias Hipofisárias , Xantomatose , Feminino , Humanos , Adulto , Imageamento por Ressonância Magnética , Sela Túrcica/diagnóstico por imagem , Sela Túrcica/cirurgia , Sela Túrcica/patologia , Endoscopia , Granuloma/patologia , Xantomatose/diagnóstico por imagem , Xantomatose/cirurgia , Xantomatose/patologia , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/cirurgia
13.
Clin Investig Arterioscler ; 36(1): 35-37, 2024.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38016879

RESUMO

"The lower, the better" is the recommended approach in the management of high LDL cholesterol. Unfortunately, this does not always achieve as in the case of a 69-year-old woman referred to our Institute for her lipid profile (LDL cholesterol 412mg/dl), bilateral xanthelasma and cutaneous xanthomas. With a maximized and personalized lipid-lowering therapies (rosuvastatin, ezetimibe, PCSK9i and lipoprotein apheresis), after only six months, the patient showed an impressive regression in her cutaneous xanthomas.


Assuntos
Anticolesterolemiantes , Hipercolesterolemia , Hiperlipoproteinemia Tipo II , Xantomatose , Humanos , Feminino , Idoso , LDL-Colesterol , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Ezetimiba/uso terapêutico , Xantomatose/etiologia , Anticolesterolemiantes/farmacologia , Anticolesterolemiantes/uso terapêutico
14.
Surg Endosc ; 38(1): 348-355, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37783778

RESUMO

BACKGROUND: Xanthogranulomatous cholecystitis (XGC) is an uncommon variant of chronic cholecystitis which can resemble gallbladder adenocarcinoma (GAC) on preoperative imaging and present technical challenges in the performance of cholecystectomy. We examined our experience with each pathology to identify distinguishing characteristics that may guide patient counseling and surgical management. METHODS: A retrospective review of all pathologically confirmed cases of XGC and GAC following cholecystectomy between 2015 and 2021 at a single institution was performed. Clinical, biochemical, radiographic, and intraoperative features were compared. RESULTS: There were 37 cases of XGC and 20 cases of GAC. Patients with GAC were older (mean 70.3 years vs 58.0, p = 0.01) and exclusively female (100% vs 45.9%, p < 0.0001). There were no significant differences in accompanying symptoms between groups (nausea/vomiting, fevers, or jaundice). The mean maximum white blood cell count was elevated for XGC compared to GAC (16.4 vs 8.6 respectively, p = 0.044); however, there were no differences in the remainder of the biochemical profile, including bilirubin, liver transaminases, CEA, and CA 19-9. The presence of an intraluminal mass (61.1% vs 9.1%, p = 0.0001) and lymphadenopathy (18.8%. vs 0.0%, p = 0.045) were associated with malignancy, whereas gallbladder wall thickening as reported on imaging (87.9% vs 38.9%, p = 0.0008) and gallstones (76.5% vs. 50.0%, p = 0.053) were more often present with XGC. Cases of XGC more often had significant adhesions/inflammation (83.8% vs 55.0%, p = 0.03). CONCLUSION: Clinical features that may favor benign chronic cholecystitis over gallbladder adenocarcinoma include younger age, male gender, current or prior leukocytosis, and the absence of an intraluminal mass or lymphadenopathy. Laparoscopic cholecystectomy is a safe surgical option for equivocal presentations. Intraoperative frozen section or intentional staging of more extensive procedures based upon final histopathology are valuable surgical strategies.


Assuntos
Adenocarcinoma , Colecistite , Neoplasias da Vesícula Biliar , Linfadenopatia , Xantomatose , Humanos , Masculino , Feminino , Vesícula Biliar/cirurgia , Colecistite/diagnóstico , Colecistite/cirurgia , Neoplasias da Vesícula Biliar/diagnóstico por imagem , Neoplasias da Vesícula Biliar/cirurgia , Xantomatose/diagnóstico , Xantomatose/cirurgia , Adenocarcinoma/diagnóstico por imagem , Adenocarcinoma/cirurgia , Linfadenopatia/patologia
17.
Medicine (Baltimore) ; 102(49): e36247, 2023 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-38065900

RESUMO

RATIONALE: Cerebrotendinous xanthomatosis is a rare autosomal recessive metabolic disease. Surgical treatment is only indicated when the xanthoma becomes large, painful, and irritable with shoe wear. Reconstruction of the large defect following resection challenging, especially with resection of the entire Achilles tendon. PATIENT CONCERNS: We report a case of bilateral Achilles tendon defects of 16 cm following resection of bilateral Achilles tendon xanthomata, with reconstruction using vascularized iliotibial tract. The patient had a good functional outcome with well-preserved strength and cosmesis. OUTCOMES: Reconstruction of a total Achilles tendon defect using Vascularized iliotibial tract is safe and effective.


Assuntos
Tendão do Calcâneo , Xantomatose Cerebrotendinosa , Xantomatose , Humanos , Tendão do Calcâneo/cirurgia , Xantomatose/cirurgia , Xantomatose Cerebrotendinosa/complicações , Fascia Lata , Humor Irritável
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